Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr12:47986350:G>A
 
ClinVar:           chr12:47986350:G>A 		NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) SNV
Conflicting classifications of pathogenicity Condition: not provided
Spondyloepiphyseal dysplasia congenita
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001945651RCV003444066RCV003339826